Canonical Allele Identifier: CA2576597212
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533855C>A , CM000681.2:g.7533855C>A GRCh38
NC_000019.9:g.7598741C>A , CM000681.1:g.7598741C>A GRCh37
NC_000019.8:g.7504741C>A NCBI36
NG_013374.1:g.4704C>A
NG_015806.1:g.16246C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*60C>A MANE Select ENSP00000264079.5:n.*60C>A
ENST00000264079.10:c.*60C>A ENSP00000264079.5:n.*60C>A
ENST00000394321.9:n.2118C>A
ENST00000599334.1:c.531C>A
ENST00000601870.1:c.156C>A
ENST00000602227.1:n.357C>A
NM_020533.2:c.*60C>A NP_065394.1:n.*60C>A
NM_020533.3:c.*60C>A MANE Select NP_065394.1:n.*60C>A
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